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rs104893814

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893814(G;T)
Make rs104893814(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position30672252
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs104893814
ebirs104893814
HLIrs104893814
Exacrs104893814
Varsomers104893814
Maprs104893814
PheGenIrs104893814
hapmaprs104893814
1000 genomesrs104893814
hgdprs104893814
ensemblrs104893814
gopubmedrs104893814
geneviewrs104893814
scholarrs104893814
googlers104893814
pharmgkbrs104893814
gwascentralrs104893814
openSNPrs104893814
23andMers104893814
23andMe allrs104893814
SNP Nexus

SNPshotrs104893814
SNPdbers104893814
MSV3drs104893814
GWAS Ctlgrs104893814
Max Magnitude0
OMIM190182
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104893814(T;T)
Alt rs104893814(T;T)
Reference rs104893814(G;G)
Significance Pathogenic
Disease Loeys-Dietz syndrome 2
Variation info
Gene TGFBR2
CLNDBN Loeys-Dietz syndrome 2
Reversed 0
HGVS NC_000003.11:g.30713744G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013334.18,